Showing papers in "Ophthalmic Genetics in 1984"
TL;DR: The ocular malformation of microcornea, uveal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a family and this unique malformation is differentiated from other well-recognized syndromes of colobomatous microphthalmia.
Abstract: The ocular malformation of microcornea, weal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a family. Clinical characteristics and ocular parameters, including refractive error and axial length, are summarized. The pedigree is consistent with autosomal dominant inheritance of the disorder; expressivity is variable. This unique malformation is differentiated from other well-recognized syndromes of colobomatous microphthalmia.
26 citations
TL;DR: This autosomal recessive syndrome is characterized by a circumpupillary aplasia of the iris, non-progressive cerebellar ataxia and oligophrenia.
Abstract: Two sisters presenting with a Gillespie's syndrome are reported. This autosomal recessive syndrome is characterized by a circumpupillary aplasia of the iris, non-progressive cerebellar ataxia and oligophrenia.
23 citations
TL;DR: A family with a rare form of autosomal recessive anophthalmia, syndactyly and multiple congenital deformities is reported and it is proposed that this be recognized as a well defined autosome recessive syndrome.
Abstract: A family with a rare form of autosomal recessive anophthalmia, syndactyly and multiple congenital deformities is reported. The authors propose that this be recognized as a well defined autosomal recessive syndrome.
17 citations
TL;DR: A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients.
Abstract: A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients. This syndrome is different from the Lenz syndrome, which includes microphthalmia or anophthalmia with narrow shoulders, double thumbs, skeletal abnormalies such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.
13 citations
TL;DR: The authors biopsied pingueculae from ten patients with this disorder and failed to find Gaucher cells in any specimen, but the elastosis observed histologically could account for their yellow hue.
Abstract: Several reports have noted an apparent association between pingueculae and Gaucher's disease and suggested that the yellow coloring of these lesions is attributable to Gaucher cells. The authors biopsied pingueculae from ten patients with this disorder and examined them by serial light microscopy and electron microscopy. They failed to find Gaucher cells in any specimen, but, as typical for pingueculae, the elastosis observed histologically could account for their yellow hue.
8 citations
TL;DR: The association of bilateral retinitis pigmentosa with Coats' syndrome is reported and cryocautery was necessary to treat the exudation over one quadrant, though xenon photocoagulation was effective in small lesions.
Abstract: The association of bilateral retinitis pigmentosa with Coats' syndrome is reported. Four lesions of vascular telangiectasis with yellowish exudates were treated by xenon photocoagulation or cryocautery. Seven months later, new vascular changes occurred in another quadrant of the fundus. Since xenon photocoagulation could not be performed because of the patient's aversion to pain, argon laser photocoagulation was used but found ineffective. Cryocautery was necessary to treat the exudation over one quadrant, though xenon photocoagulation was effective in small lesions.
7 citations
TL;DR: A 5-month-old healthy boy had bilateral retinoblastoma and was enucleated and the right eye was successfully treated by external radiation, but a recurrence was observed after three months as mentioned in this paper.
Abstract: A 5–month-old healthy boy had bilateral retinoblastoma. The left eye was enucleated and the right eye was successfully treated by external radiation. At the time when this treatment was completed, a large midline tumour mass in the sellar and parasellar areas of the brain was discovered by CT scan. This tumour was also treated by external radiation, but a recurrence was observed after three months. The patient died 11 months from the diagnosis of retinoblastoma. At autopsy the orbits showed no extra-ocular growth and the treated eye revealed only a scarred tumour. There was no evidence of metastatic disease. The brain tumour resembled pineoblastoma or differentiated retinoblastoma. It is concluded that the case shows all clinical features of ‘trilateral' retinoblastoma, which could be confirmed by complete autopsy as well as neuropatho-logical and ophthalmopathological studies.
7 citations
TL;DR: The present research confirmed the provisional conclusion of Bose et al. (1968) that the achromatopsia in Bishnupur is an autosomal recessive character and suggested that the defect is more readily manifested in males.
Abstract: Thirteen subjects from the 'Sankhabaniks' of Bishnupur and two new similar cases were given six colour vision tests. All had photophobia, fixation nystagmus, low visual acuity and marked, though not complete, loss of colour sense. Forty other males and 24 females related to the defectives were also tested with at least five of the tests, for comparison. The tests were Ishihara, HRR test, Sloan's Achromatopsia test, the Dichotomous (D 15) test, Hundred Hue test and the Pickford-Nicolson Anomaloscope. The present research confirmed the provisional conclusion of Bose et al. (1968) that the achromatopsia in Bishnupur is an autosomal recessive character. That women relatives of the achromats showed greater average error scores with the Dichotomous test, the Hundred Hue test and the Sloan's test than male relatives, suggests that the defect is more readily manifested in males, and that the female relatives would include a number of genetic defectives with incomplete manifestation due to sex control. The defectives were clearly distinguished from the relatives as a group.
2 citations
TL;DR: The authors studied the ocular involvement with ERG in nine patients and suggests that ERG may be a useful approach for the differential diagnosis in some forms of HMSN.
Abstract: Hereditary motor and sensory neuropathies (HMSN) is a complex group of diseases, mainly of unknown etiology. In 1975, Dyck proposed a classification based essentially on the type of hereditary transmission, nerve conduction velocity and histologic aspect of small nerve biopsies. Hagberg & Westerberg (1983) proposed a new classification. The association between HMSN and retinitis pigmentosa or optic atrophy is sometimes described. Analysing the reported cases, it became evident that the neurologic disease was not clearly defined and the ophthalmologic examination rarely made. In most cases, ERG data were lacking. The authors studied the ocular involvement with ERG in nine patients. The ERG was low in only one patient. Their study suggests that ERG may be a useful approach for the differential diagnosis in some forms of HMSN.
1 citations
TL;DR: The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant, with the most striking biomicroscopic feature an accumulation of large white irregular flakes scattered throughout the equatorial cortex.
Abstract: The authors report two unusual pedigrees of flake-like cataracts inherited as an isolated mendelian trait, presumably autosomal dominant. The most striking biomicroscopic feature is an accumulation of large white irregular flakes ('type B opacities') scattered throughout the equatorial cortex, with apparently less involvement of the nucleus. Some of these opacities are globular, but most are flattened and have feathery edges. These type B opacities are clinically and microscopically identical in the two families. Type B lesions are characterized histologically by irregular pale-staining areas. Ultrastructurally, these areas show large collections of microglobular degeneration immediately adjacent to normal-appearing lens fibers. Electron probe studies demonstrate normal calcium levels. 'Type A' opacities are biomicroscopically smaller, punctate, and clinically non-specific. Ultrastructurally, type A opacities include clusters of medium sized lenticular globules, each of which is larger than the individual microglobular abnormalities of type B lesions, although the aggregated type B lesion is considerably larger than an individual type A lesion. The microscopic appearance of this inherited cataract appears to be unique.
TL;DR: An infant with congenital agranulocytosis (Kostmann's syndrome) presenting with necrosis of the eyelids and lacrimal apparatus is reported, which should be considered in infants with severe localized pyogenic infections.
Abstract: An infant with congenital agranulocytosis (Kostmann's syndrome) presenting with necrosis of the eyelids and lacrimal apparatus is reported. Although the disease is rare, its presence should be considered in infants with severe localized pyogenic infections.